Canonical Allele Identifier: CA2717308
Gene: SOX2 HGNC NCBI
SOX2-OT HGNC NCBI

Linked Data

ClinVar Variation Id: 2737796
ClinVar RCV Id: RCV003516414
dbSNP Id: rs763171566
ExAC: 3:181430842 A / G
gnomAD v2: 3-181430842-A-G
gnomAD v3: 3-181713054-A-G
gnomAD v4: 3-181713054-A-G
MyVariant Identifiers: chr3:g.181430842A>G (hg19) chr3:g.181713054A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.181713054A>G , CM000665.2:g.181713054A>G GRCh38
NC_000003.11:g.181430842A>G , CM000665.1:g.181430842A>G GRCh37
NC_000003.10:g.182913536A>G NCBI36
NG_009080.1:g.6121A>G , LRG_719:g.6121A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000325404.3:c.694A>G (SOX2) MANE Select ENSP00000323588.1:p.Thr232Ala
ENST00000325404.2:c.694A>G (SOX2) ENSP00000323588.1:p.Thr232Ala
NM_003106.3:c.694A>G (SOX2) NP_003097.1:p.Thr232Ala
NR_004053.3:n.768-2131A>G (SOX2-OT)
NR_075089.1:n.767+13171A>G (SOX2-OT)
NR_075090.1:n.482-26515A>G (SOX2-OT)
NR_075091.1:n.783-2131A>G (SOX2-OT)
NR_075092.1:n.782+13171A>G (SOX2-OT)
NR_075093.1:n.473-26515A>G (SOX2-OT)
NM_003106.4:c.694A>G (SOX2) MANE Select NP_003097.1:p.Thr232Ala
Search 100 bp 5'
Search 100 bp 3'